Canonical Allele Identifier: CA1260981652

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490193C= , CM000664.2:g.73490193C=	GRCh38
NC_000002.11:g.73717320C= , CM000664.1:g.73717320C=	GRCh37
NC_000002.10:g.73570828C=	NCBI36
NG_011690.1:g.109441C= , LRG_741:g.109441C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7853C=	ENSP00000507671.1:p.Ala2618=
ENST00000682801.1:c.7853C=	ENSP00000507862.1:p.Ala2618=
ENST00000682859.1:c.7853C=	ENSP00000508222.1:p.Ala2618=
ENST00000683791.1:c.1245C=
ENST00000684460.1:c.5305C=
ENST00000684548.1:c.7853C=	ENSP00000507421.1:p.Ala2618=
ENST00000684590.1:c.2300C=	ENSP00000507376.1:p.Ala767=
ENST00000684656.1:c.5305C=
ENST00000613296.6:c.8234C= MANE Select	ENSP00000482968.1:p.Ala2745=
ENST00000651434.1:c.896-29582C=
ENST00000423048.5:c.3030+35C=	ENSP00000399833.1:n.3030+35C=
ENST00000484298.5:c.8108C=	ENSP00000478155.1:p.Ala2703=
ENST00000613296.4:c.8234C=	ENSP00000482968.1:p.Ala2745=
ENST00000614410.4:c.8234C=	ENSP00000479094.1:p.Ala2745=
ENST00000620466.4:n.2037C=
NM_015120.4:c.8237C= , LRG_741t1:c.8237C=	NP_055935.4:p.Ala2746=
NM_001378454.1:c.8234C= MANE Select	NP_001365383.1:p.Ala2745=